SNP Links for Nucleotide (Select 508772642) - SNP

Links from Nucleotide

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Select item 14914877771.

rs1491487777 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:33497355 (GRCh38)
8:33354873 (GRCh37)
Canonical SPDI:: NC_000008.11:33497353:ACA:A
Gene:: MAK16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.027165/441 (ALFA)
-=0.011785/7 (NorthernSweden)
-=0.020899/2660 (GnomAD)
-=0.024672/124 (1000Genomes)
-=0.035388/592 (TOMMO)
HGVS:: NC_000008.11:g.33497355_33497356del, NC_000008.10:g.33354873_33354874del, NG_033257.1:g.20831_20832del

Select item 14914609712.

rs1491460971 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:33497338 (GRCh38)
8:33354856 (GRCh37)
Canonical SPDI:: NC_000008.11:33497337:CA:
Gene:: MAK16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000008.11:g.33497338_33497339del, NC_000008.10:g.33354856_33354857del, NG_033257.1:g.20847_20848del

Select item 14914547673.

rs1491454767 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 8:33512876 (GRCh38)
8:33370395 (GRCh37)
Canonical SPDI:: NC_000008.11:33512876::A,NC_000008.11:33512876::AA
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000008.11:g.33512876_33512877insA, NC_000008.11:g.33512876_33512877insAA, NC_000008.10:g.33370394_33370395insA, NC_000008.10:g.33370394_33370395insAA, NG_033257.1:g.5309_5310insT, NG_033257.1:g.5309_5310insTT, NM_025115.5:c.-264_-263insT, NM_025115.5:c.-264_-263insTT, NM_025115.4:c.-264_-263insT, NM_025115.4:c.-264_-263insTT, NM_025115.3:c.-264_-263insT, NM_025115.3:c.-264_-263insTT

Select item 14914508964.

rs1491450896 has merged into rs397973510 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:33503135 (GRCh38)
8:33360653 (GRCh37)
Canonical SPDI:: NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33503128:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TTI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.33503135_33503148del, NC_000008.11:g.33503138_33503148del, NC_000008.11:g.33503140_33503148del, NC_000008.11:g.33503141_33503148del, NC_000008.11:g.33503142_33503148del, NC_000008.11:g.33503143_33503148del, NC_000008.11:g.33503144_33503148del, NC_000008.11:g.33503145_33503148del, NC_000008.11:g.33503146_33503148del, NC_000008.11:g.33503147_33503148del, NC_000008.11:g.33503148del, NC_000008.11:g.33503148dup, NC_000008.11:g.33503147_33503148dup, NC_000008.11:g.33503146_33503148dup, NC_000008.11:g.33503145_33503148dup, NC_000008.11:g.33503144_33503148dup, NC_000008.11:g.33503143_33503148dup, NC_000008.11:g.33503142_33503148dup, NC_000008.11:g.33503141_33503148dup, NC_000008.11:g.33503148_33503149insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.33360653_33360666del, NC_000008.10:g.33360656_33360666del, NC_000008.10:g.33360658_33360666del, NC_000008.10:g.33360659_33360666del, NC_000008.10:g.33360660_33360666del, NC_000008.10:g.33360661_33360666del, NC_000008.10:g.33360662_33360666del, NC_000008.10:g.33360663_33360666del, NC_000008.10:g.33360664_33360666del, NC_000008.10:g.33360665_33360666del, NC_000008.10:g.33360666del, NC_000008.10:g.33360666dup, NC_000008.10:g.33360665_33360666dup, NC_000008.10:g.33360664_33360666dup, NC_000008.10:g.33360663_33360666dup, NC_000008.10:g.33360662_33360666dup, NC_000008.10:g.33360661_33360666dup, NC_000008.10:g.33360660_33360666dup, NC_000008.10:g.33360659_33360666dup, NC_000008.10:g.33360666_33360667insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033257.1:g.15044_15057del, NG_033257.1:g.15047_15057del, NG_033257.1:g.15049_15057del, NG_033257.1:g.15050_15057del, NG_033257.1:g.15051_15057del, NG_033257.1:g.15052_15057del, NG_033257.1:g.15053_15057del, NG_033257.1:g.15054_15057del, NG_033257.1:g.15055_15057del, NG_033257.1:g.15056_15057del, NG_033257.1:g.15057del, NG_033257.1:g.15057dup, NG_033257.1:g.15056_15057dup, NG_033257.1:g.15055_15057dup, NG_033257.1:g.15054_15057dup, NG_033257.1:g.15053_15057dup, NG_033257.1:g.15052_15057dup, NG_033257.1:g.15051_15057dup, NG_033257.1:g.15050_15057dup, NG_033257.1:g.15057_15058insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913838865.

rs1491383886 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CAAAAAAAAAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14913735666.

rs1491373566 has merged into rs774114908 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 8:33499307 (GRCh38)
8:33356825 (GRCh37)
Canonical SPDI:: NC_000008.11:33499304:ATAT:AT,NC_000008.11:33499304:ATAT:ATATAT,NC_000008.11:33499304:ATAT:ATATATAT
Gene:: TTI2 (Varview), MAK16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000008.11:g.33499305AT[1], NC_000008.11:g.33499305AT[3], NC_000008.11:g.33499305AT[4], NC_000008.10:g.33356823AT[1], NC_000008.10:g.33356823AT[3], NC_000008.10:g.33356823AT[4], NG_033257.1:g.18878AT[1], NG_033257.1:g.18878AT[3], NG_033257.1:g.18878AT[4], NM_032509.4:c.*676AT[1], NM_032509.4:c.*676AT[3], NM_032509.4:c.*676AT[4], NM_032509.3:c.*676AT[1], NM_032509.3:c.*676AT[3], NM_032509.3:c.*676AT[4]

Select item 14913431657.

rs1491343165 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:33504487 (GRCh38)
8:33362006 (GRCh37)
Canonical SPDI:: NC_000008.11:33504487::G
Gene:: TTI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.33504487_33504488insG, NC_000008.10:g.33362005_33362006insG, NG_033257.1:g.13698_13699insC

Select item 14913124618.

rs1491312461 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:33512876 (GRCh38)
8:33370394 (GRCh37)
Canonical SPDI:: NC_000008.11:33512875:GT:
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00007/1 (TOMMO)
HGVS:: NC_000008.11:g.33512876_33512877del, NC_000008.10:g.33370394_33370395del, NG_033257.1:g.5309_5310del, NM_025115.5:c.-264_-263del, NM_025115.4:c.-264_-263del, NM_025115.3:c.-264_-263del

Select item 14912589739.

rs1491258973 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:33504488 (GRCh38)
8:33362006 (GRCh37)
Canonical SPDI:: NC_000008.11:33504486:AAA:A
Gene:: TTI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.33504488_33504489del, NC_000008.10:g.33362006_33362007del, NG_033257.1:g.13698_13699del

Select item 149122437210.

rs1491224372 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TGTG
Chromosome:: no mapping
Canonical SPDI:

Select item 149121214811.

rs1491212148 has merged into rs368990473 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 8:33499315 (GRCh38)
8:33356833 (GRCh37)
Canonical SPDI:: NC_000008.11:33499307:TTTTTTTTTTTTT:TTTTTTT,NC_000008.11:33499307:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:33499307:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:33499307:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:33499307:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: TTI2 (Varview), MAK16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.33499315_33499320del, NC_000008.11:g.33499319_33499320del, NC_000008.11:g.33499320del, NC_000008.11:g.33499320dup, NC_000008.11:g.33499319_33499320dup, NC_000008.10:g.33356833_33356838del, NC_000008.10:g.33356837_33356838del, NC_000008.10:g.33356838del, NC_000008.10:g.33356838dup, NC_000008.10:g.33356837_33356838dup, NG_033257.1:g.18873_18878del, NG_033257.1:g.18877_18878del, NG_033257.1:g.18878del, NG_033257.1:g.18878dup, NG_033257.1:g.18877_18878dup, NM_032509.4:c.*686_*691del, NM_032509.4:c.*690_*691del, NM_032509.4:c.*691del, NM_032509.4:c.*691dup, NM_032509.4:c.*690_*691dup, NM_032509.3:c.*686_*691del, NM_032509.3:c.*690_*691del, NM_032509.3:c.*691del, NM_032509.3:c.*691dup, NM_032509.3:c.*690_*691dup

Select item 149114648712.

rs1491146487 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:33509979 (GRCh38)
8:33367497 (GRCh37)
Canonical SPDI:: NC_000008.11:33509978:CA:
Gene:: TTI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000008.11:g.33509979_33509980del, NC_000008.10:g.33367497_33367498del, NG_033257.1:g.8206_8207del

Select item 149113724213.

rs1491137242 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:33502810 (GRCh38)
8:33360328 (GRCh37)
Canonical SPDI:: NC_000008.11:33502807:AGAG:AG
Gene:: TTI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000142/2 (TOMMO)
HGVS:: NC_000008.11:g.33502808AG[1], NC_000008.10:g.33360326AG[1], NG_033257.1:g.15375CT[1]

Select item 149094994714.

rs1490949947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:33512584 (GRCh38)
8:33370102 (GRCh37)
Canonical SPDI:: NC_000008.11:33512583:T:C
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.33512584T>C, NC_000008.10:g.33370102T>C, NG_033257.1:g.5602A>G, NM_025115.5:c.30A>G, NM_025115.4:c.30A>G, NM_025115.3:c.30A>G, NM_001102401.4:c.30A>G, NM_001102401.3:c.30A>G, NM_001102401.2:c.30A>G, NM_001330505.3:c.30A>G, NM_001330505.2:c.30A>G, NM_001330505.1:c.30A>G, NM_001265581.2:c.30A>G, NM_001265581.1:c.30A>G, XM_047422266.1:c.30A>G

Select item 149074309915.

rs1490743099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:33502938 (GRCh38)
8:33360456 (GRCh37)
Canonical SPDI:: NC_000008.11:33502937:G:A,NC_000008.11:33502937:G:C
Gene:: TTI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.33502938G>A, NC_000008.11:g.33502938G>C, NC_000008.10:g.33360456G>A, NC_000008.10:g.33360456G>C, NG_033257.1:g.15248C>T, NG_033257.1:g.15248C>G

Select item 149066748416.

rs1490667484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33515629 (GRCh38)
8:33373147 (GRCh37)
Canonical SPDI:: NC_000008.11:33515628:C:T
Validated:: by frequency,by alfa
MAF:: T=0.00022/1 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.33515629C>T, NC_000008.10:g.33373147C>T, NG_033257.1:g.2557G>A

Select item 149046815117.

rs1490468151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:33501995 (GRCh38)
8:33359513 (GRCh37)
Canonical SPDI:: NC_000008.11:33501994:G:A
Gene:: TTI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.33501995G>A, NC_000008.10:g.33359513G>A, NG_033257.1:g.16191C>T

Select item 149045115318.

rs1490451153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:33515676 (GRCh38)
8:33373194 (GRCh37)
Canonical SPDI:: NC_000008.11:33515675:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.33515676G>C, NC_000008.10:g.33373194G>C, NG_033257.1:g.2510C>G

Select item 149015555719.

rs1490155557 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAACAAAAAAGA>- [Show Flanks]
Chromosome:: 8:33503139 (GRCh38)
8:33360657 (GRCh37)
Canonical SPDI:: NC_000008.11:33503137:AAAAAAAAAAACAAAAAAGA:A
Gene:: TTI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.33503139_33503157del, NC_000008.10:g.33360657_33360675del, NG_033257.1:g.15030_15048del

Select item 149012249320.

rs1490122493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:33515169 (GRCh38)
8:33372687 (GRCh37)
Canonical SPDI:: NC_000008.11:33515168:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.33515169T>C, NC_000008.10:g.33372687T>C, NG_033257.1:g.3017A>G

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